ClinVar Miner

Submissions for variant NM_012144.4(DNAI1):c.1001C>T (p.Ser334Phe)

gnomAD frequency: 0.00012  dbSNP: rs1451350869
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001912527 SCV002158572 likely benign Primary ciliary dyskinesia 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV001912527 SCV002692853 uncertain significance Primary ciliary dyskinesia 2014-09-04 criteria provided, single submitter clinical testing The p.S334F variant (also known as c.1001C>T), located in coding exon 11 of the DNAI1 gene, results from a C to T substitution at nucleotide position 1001. The serine at codon 334 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002490154 SCV002803964 uncertain significance Kartagener syndrome 2021-12-03 criteria provided, single submitter clinical testing

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